ClinVar Miner

Variants from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München: Collection method of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1117 474 8 328 0 8 103 411

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München pathogenic likely pathogenic uncertain significance likely benign benign affects drug response pathogenic, low penetrance risk factor
pathogenic 6 257 49 1 0 1 2 1 5
likely pathogenic 71 2 52 1 2 0 0 0 0

Submitter to submitter summary #

Total submitters: 163
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Invitae 0 200 0 40 0 1 30 71
Revvity Omics, Revvity 0 66 0 24 0 0 7 31
Institute of Human Genetics, University of Leipzig Medical Center 0 81 0 24 0 0 5 29
Baylor Genetics 0 137 0 21 0 0 7 28
OMIM 0 345 0 20 0 6 0 26
MGZ Medical Genetics Center 0 66 0 19 0 0 4 23
Counsyl 0 18 0 16 0 0 6 22
Fulgent Genetics, Fulgent Genetics 0 69 0 21 0 0 0 21
3billion 0 93 0 17 0 0 1 18
SIB Swiss Institute of Bioinformatics 0 12 0 15 0 0 2 17
Mendelics 0 57 0 11 0 0 4 15
Genome-Nilou Lab 0 30 0 13 0 0 2 15
Genomics England Pilot Project, Genomics England 0 9 0 14 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 74 0 10 0 0 3 13
Illumina Laboratory Services, Illumina 0 50 0 5 0 0 8 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 27 0 10 0 0 2 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 89 0 11 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 31 0 6 0 0 4 10
Genetic Services Laboratory, University of Chicago 0 29 0 9 0 0 0 9
Natera, Inc. 0 49 0 7 0 0 2 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 39 0 6 0 0 2 8
GeneReviews 0 102 6 1 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 24 0 5 0 0 1 6
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 4 0 0 2 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 13 0 6 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 25 0 6 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 30 0 5 0 0 1 6
Genetics and Molecular Pathology, SA Pathology 0 20 0 5 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 12 0 4 0 0 1 5
Myriad Genetics, Inc. 0 36 0 4 0 0 1 5
Centogene AG - the Rare Disease Company 0 31 0 4 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 20 0 3 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 4 0 0 0 4
Fundacion Hipercolesterolemia Familiar 0 0 0 2 0 0 2 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 4 0 3 0 0 1 4
Suma Genomics 0 5 0 3 0 0 1 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 14 0 3 0 0 1 4
PreventionGenetics, part of Exact Sciences 0 3 0 2 0 0 1 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 10 0 3 0 0 0 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 3 0 0 0 3
LDLR-LOVD, British Heart Foundation 0 2 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 10 0 1 0 0 2 3
Hadassah Hebrew University Medical Center 0 0 0 3 0 0 0 3
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 11 0 3 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 10 0 3 0 0 0 3
Color Diagnostics, LLC DBA Color Health 0 5 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 31 0 3 0 0 0 3
Iberoamerican FH Network 0 0 0 1 0 0 2 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 19 0 3 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 5 0 3 0 0 0 3
Lifecell International Pvt. Ltd 0 11 0 3 0 0 0 3
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 3 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 18 0 1 0 1 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 8 0 2 0 0 0 2
GeneDx 0 5 0 1 0 0 1 2
Institute of Human Genetics, Cologne University 0 3 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 2
RettBASE 0 7 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 15 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 1 0 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 14 0 2 0 0 0 2
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago 0 1 0 2 0 0 0 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 2 0 2 0 0 0 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 14 0 1 0 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 1 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 2 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 10 0 2 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 14 0 2 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 2 0 0 0 2
New York Genome Center 0 21 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 5 0 1 0 0 1 2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 10 0 2 0 0 0 2
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 2 0 2 0 0 0 2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 10 0 2 0 0 0 2
Eurofins-Biomnis 0 3 0 1 0 0 1 2
Athena Diagnostics Inc 0 2 0 1 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 5 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 7 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 8 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 0 1
Blueprint Genetics 0 4 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 1 0 0 0 0 1 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 3 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 5 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 16 0 1 0 0 0 1
Medical Genetics, University of Parma 0 1 0 1 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 5 0 1 0 0 0 1
Neurogenetics Laboratory, GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 15 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 0 2 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 6 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 7 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 5 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 8 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 2 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 2 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 3 0 0 0 0 1 1
Breda Genetics srl 0 3 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 3 0 1 0 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 0 1
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 1 0 1 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 7 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 7 0 1 0 0 0 1
Reproductive Endocrine Unit, Massachusetts General Hospital 0 0 0 1 0 0 0 1
Fondazione Telethon, Telethon Institute of Genetics and Medicine 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 1 0 1 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 0 1 0 1 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 0 0 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 3 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 0 1 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 18 0 1 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 2 0 1 0 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 24 0 1 0 0 0 1
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 1 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 7 0 0 0 0 1 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 1 0 0 0 1
Houlden Lab, UCL Institute of Neurology 0 0 0 1 0 0 0 1
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Arcensus 0 1 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 6 0 1 0 0 0 1
Tumer Group, Copenhagen University Hospital, Rigshospitalet 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 411
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121 0.00020
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923 0.00020
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167 0.00013
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058 0.00011
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu) rs371260604 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244 0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125 0.00003
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004407.4(DMP1):c.55-1G>C rs587776697 0.00002
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter) rs747737475 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile) rs1372719653 0.00002
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg) rs1457269547 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001083614.2(EARS2):c.320G>A (p.Arg107His) rs1021330566 0.00001
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) rs758432471 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725 0.00001
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His) rs587784363 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer) rs1399649784 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_014297.5(ETHE1):c.375+5G>A rs769259233 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000380.4(XPA):c.772_785del (p.Arg258fs) rs778543124
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.2193del (p.Phe731fs) rs886041631
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu) rs1841141204
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg) rs1135402900
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) rs1579729357
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter) rs755680047
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) rs121918235
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) rs765816079
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) rs886039323
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val) rs2142884433
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001349206.2(LPIN1):c.942del (p.Pro315fs) rs1572770217
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs) rs1575147319
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly) rs121909574
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn) rs1568763104
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His) rs1598408073
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs) rs1447313633
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs) rs1559296368
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) rs367806541
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr) rs1553518389
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg) rs1131691302
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs) rs727503909
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) rs67586389
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser) rs1938405472
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_006005.3(WFS1):c.2224dup (p.Cys742fs) rs1578612324
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del) rs1272826809
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr) rs1762178916
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014625.4(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter) rs1554480537
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp) rs119476050
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter) rs1064797235
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_033380.3(COL4A5):c.446del (p.Pro149fs) rs104886054
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_153682.3(PIGP):c.384del (p.Glu129fs) rs778481061
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) rs864309515
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) rs121909715
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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